My personal story is the story of our patient organisation: EVITA - Cancro Hereditário (AVOID - Hereditary Cancer). In 2008, I was working as a nurse in Gynaecology-Obstetrics in Lisbon. I came across a 27-year old pregnant woman who had had a mastectomy due to triple-negative breast cancer. When taking care of her in the recovery room, I asked myself, “What happened? What went wrong?”
I had been a nurse for over 20 years when I first heard about genetic mutations that predispose women and, to some extent, men to breast cancer. From my conversation with the 27-year-old woman, I understood that two of her aunts had died from cancer. I recognised myself in her story: two of my paternal aunts and my grandmother had died from breast or ovarian cancer. I decided to book an appointment with a geneticist. Following the appointment, we both agreed that I should take a genetic test. Three months later, the results came back positive. I was a BRCA1 mutation carrier, which has been found to impact a person's chances of developing breast cancer.
Being diagnosed with this genetic mutation in a timely manner allowed me to be proactive. I decided to have preventive surgery to avoid breast cancer. Cancer is a very long journey. I witnessed my mother´s second diagnosis 30 years after her first breast cancer diagnosis. Meeting this breast cancer patient in 2008 saved my life.
I feel extremely grateful to have discovered the mutation before the cancer developed. That is why in 2011, I decided to create EVITA - Cancro Hereditário as a platform to support families, raise awareness and advocate for genetic screening and prevention.
We have an ongoing campaign to raise awareness of male breast cancer in Portugal. Following the release of a video
We need to do everything we can to prevent hereditary cancers.
I hope policymakers and payors wake up and take action. Hereditary cancers kill young adults and young parents, which undoubtedly results in an economic burden. On the other hand, genetic testing is getting cheaper. We need to accelerate. Policy measures need to be taken to increase prevention.
You cannot imagine the number of patients who have had a clear indication for genetic testing but were not referred to a geneticist. If we only identify carriers when they get sick with cancer, it means we fail to prevent disease, although nowadays, genetic tests are done relatively quickly.
To me, the sustainability of healthcare systems relies on the prevention of waste and disease. We should look at how money is spent. We focus more on treating people than preventing disease, while it should be the other way around. In Portugal, only 1% of the healthcare budget is spent on prevention. If there is no increase in the budget allocated to prevention, there will be more cases to treat. More attention should be given to disease prevention.
We also need data. If we don’t collect data, we won’t gain knowledge. Given that our national registry in Portugal doesn’t store genetic information because it’s sensitive information, all cancers on the registry are “sporadic” cancers. With EVITA - Cancro Hereditário and a number of partners, we have started working on the development of a patient-led registry to bridge this gap. This platform will be a game changer because knowledge is power.